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We’ve come so far in the past 50 years, but the reality is that, in many ways, the state of healthcare has recently become worse. According to the National Center for Health Statistics, in 2017 the average life expectancy in the United States fell for a second year in a row.1 The same report indicates if the trend continues this year, the U.S. will see the first three-year decline since the Spanish Flu ravaged the country a century ago.
Heart disease is, when adjusted for age, the number one cause of death, followed by cancer. But while heart disease and cancer declined in percentage of overall causes of death, according to the National Center for Health Statistics, Alzheimer’s disease and dementia have continued their upward trend, as aging baby boomers increasingly fall victim to these neurological disorders. But another neurological affliction has skyrocketed: opioid addiction and subsequent death from overdose.
Compounding the human tragedy of declining health is the massive rise in expenditures. The U.S. spends more on healthcare than any other country in the world,2 yet we don’t have the results to justify this kind of spending. These costs are driven by high prices, relative to other countries, for drugs and treatment. If this is what 50 years of progress looks like, there has to be another way.
The solution: precision health
Precision health is real healthcare. It is the ability to use blood biomarkers to detect when an individual is at risk of disease, long before he or she actually shows symptoms. Aided by recent advances in medical technology, researchers are developing ways to use biomarkers to identify the likelihood of a wide range of disorders, including in cardiology, oncology, neurology, infectious disease, and inflammation.
The goal is to provide preventative care and guidance so that individuals do not develop these afflictions in the first place. Instead of measuring an individual’s progression of disease, we’ll be measuring an individual’s progression from his or her baseline of health. One day, our doctors will be trained to read blood biomarker algorithms to catch disease at its earliest, or prevent disease altogether, rather than being trained to read symptoms.
Part of the precision health vision is to also better predict which individuals will respond positively to certain drugs and treatment. Using biomarkers, we may even understand which individuals are more likely to become addicted to opioids.
Existing research shows we’re on the right path to this precision health vision, and I’m confident our progress will accelerate dramatically over the coming decades.
Evolving research
More and more research is leading us to a system where we’re monitoring an individual’s baseline of health rather than disease. Cardiac troponins have been demonstrated to be reliable identifiers of heart attack risk. Clinicians can increasingly predict such risks ahead of time3 and encourage patients to lead healthier lifestyles and prescribe the right medication before it’s too late.
Cardiology is only one area where progress is being made. We’re also starting to realize how diseases are interconnected—primarily due to inflammation—and how individuals have different baselines. One recent study4 was instrumental in demonstrating how individuals have widely different baseline variations of inflammatory cytokines. The authors stated, “The results show that some cytokines vary by more than two orders of magnitude between individuals, making it an imperative to obtain individual baseline measurements if they are to play a role in health and disease diagnosis.” These findings indicate that individuals at risk of inflammatory disease can be identified through analysis of the magnitude of the variation of their cytokines from the norm.
Such studies are made possible by advances in the technological capabilities of ultrasensitive single-molecule array assays that rely on blood biomarkers, the primary catalyst for delving deeper into identifying risk of disease rather than merely treating it after symptoms occur. The increasing sophistication and availability of this technology in coming years will allow clinicians to routinely perform such exploratory analysis, identifying the possibility of acquiring inflammatory diseases and working with patients to cultivate lifestyle choices that mitigate the impact or avoid such conditions altogether.
According to the National Cancer Institute, in the United States alone, an estimated 1,735,350 people will be diagnosed with cancer by the end of 2018.5 The impact of cancer is further compounded by the harmful radiation treatments that patients undergo. There are two flaws in the current state of cancer diagnostics: 1) because diagnosis relies on imaging, tumors are often not detected until they have become too large to root out entirely, and 2) benign tumors that are misdiagnosed as malignant trigger expensive and painful radiation therapy. According to Dr. Barry Kramer of the National Cancer Institute, overdiagnosis is an alarmingly common problem that leads to dangerous, unnecessary treatment.6 A noninvasive blood test could be the breakthrough we need to better understand how to treat patients without unnecessary tests and radiation exposure.
A 2015 paper7 detailed researchers’ efforts to transition from image-based diagnosis to one based on measuring the increase in levels of prostate-specific antigen (PSA) within murine serum, using mice as test subjects. In successfully identifying cancerous tumors significantly earlier than is normal in cancer diagnosis, the researchers concluded that their work “offers significant potential as a noninvasive platform for the monitoring of early stage cancer,” as well as in “differentiating biologically relevant disease from tumors that may never become symptomatic—a dimension that image-based diagnostics lack.” Future cancer research and drug development will no doubt maintain a keen interest in the use of blood biomarkers to greatly enhance the effectiveness of diagnosis and treatment; technological progress in this area will shift the method of diagnosis from unreliable imaging to a simple blood test.
Neurology is another frontier of precision health, and one in which research and development breakthroughs are needed more than ever before. Dementia and Alzheimer’s disease continue to claim more lives (the Alzheimer’s Association projects a rise from 5.7 million in 2018 to 14 million by 2050 if there are no medical breakthroughs in diagnosis and/or treatment8), and little is understood about the development of these disorders. A 2016 study9 found a correlation between serum neurofilament light chain (NfL) concentrations and frontotemporal dementia (FTD). “Increased serum NfL concentrations are seen in FTD but show wide variability within each clinical and genetic group,” the researchers wrote. “Higher concentrations may reflect the intensity of the disease in FTD and are associated with more rapid atrophy of the frontal lobes.” Such studies offer insight into how dementia develops and varies in its intensity, potentially allowing clinicians to identify the onset of this disorder early on.
Other studies have found a link between NfL and relapsing-remitting MS, with a 2018 study10 concluding, “In clinically stable patients, serum [NfL] may offer an alternative to MRI monitoring for subclinical disease activity.” NfL has also been identified as a biomarker for amyotrophic lateral sclerosis (ALS); a 2018 research paper11 indicated that, “The measurement of Nf has potential to enhance diagnostic accuracy of ALS in those presenting soon after symptom onset, and is measurable across multiple centers.” In neurology, as with inflammation, cardiology, and oncology, the ability to analyze and diagnose a disease through a simple blood test offers the possibility of a far more hopeful prognosis than relying on imaging.
Conclusion
As we move into the next 50 years, it is imperative we rely on peer-reviewed publications to support our precision health vision. The aforementioned research is just a sampling of the progress researchers have made and continue to make. In each of these areas, the technology behind using blood biomarkers to identify diseases and risks is leading medical professionals away from simple diagnostics and treatment toward a norm in which illnesses are almost always anticipated before they strike, and the emphasis is on proactive care rather than reactive treatment.
Another goal we’re moving toward is identifying individuals who are prone to addiction long before they have been exposed to drugs. Imagine parents having the ability to find out the risk of their children falling prey to what is becoming a rising killer in the U.S. today, and the primary driver of decreasing life expectancy. By altering the public perception of drug addiction from one of criminal stigma to one in which there are definitive medical explanations, precision health can prevent the pain, suffering, and ostracism of what is essentially a neurological disorder.
In previous eras, dementia and Alzheimer’s were barely understood, drug addiction was considered a moral failing rather than a neurological disorder, and people bankrupted themselves on absurdly expensive drugs for tests and treatment.
Precision health will shift the focus of medicine from treatment of disease to proactive encouragement of healthy lifestyles for people at risk. Not only will this approach spare countless lives and human suffering, it will address ballooning healthcare costs, given that drug treatments and medical procedures comprise the bulk of expenses. By 2030, healthcare can be transformed from reactive costly treatments to proactive personalized disease prevention, reducing costs by 40%, increasing access by 60%, and increasing productive life expectancy by eight years. These projections are based on the current rate of successful research and the possibility of application of blood biomarkers across a wide range of medical fields and disorders.
I believe the next 50 years will bring about unprecedented progress for our healthcare system as we continue to move in the direction of precision health.
References
- https://www.cnn.com/2017/12/21/health/us-life-expectancy-study/index.html
- https://abcnews.go.com/Health/us-spends-health-care-countries-fare-study/story?id=53710650
- http://fortune.com/2016/12/12/brainstorm-health-12-12-intro/
- Wu, D.; Dinh, T.L. et al. Am. J. Pathol. 2017 Dec, 187(12), 2620–6; doi: 10.1016/j.ajpath.2017.08.007. Epub 2017 Sep 15.
- https://www.cancer.gov/about-cancer/understanding/statistics
- https://prevention.cancer.gov/news-and-events/news/qa-what-cancer-0
- Schubert, S.M.; Arendt, L.M. et al. Sci. Reports 2015, 5, 11034.
- https://www.alz.org/alzheimers-dementia/facts-figures
- Rohrer, J.D.; Woollacott, I.O. et al. Neurology 2016 Sept 27, 87(13), 1329–36; doi: 10.1212/WNL.0000000000003154. Epub 2016 Aug 31.
- Varhaug, K.N.; Barro, C. et al. Neurology Jan 2018, 5(1); doi: https://doi.org/10.1212/NXI.0000000000000422.
- Feneberg, E.; Oeckl, P. et al. Neurology Jan 2018, 90(1), e22-e30. doi: 10.1212/WNL.0000000000004761. Epub 2017 Dec 6.
Kevin Hrusovsky is the founder and chair of Powering Precision Health, a forum for advancing the science of precision health. @KevinHrusovsky